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杜安眼球后退综合征及伴发的眼部异常

Duane Retraction Syndrome and Accompanying Ocular Abnormalities.

作者信息

Kocamaz Murat, Aygit Ebru Demet, Inal Asli, Ocak Osman Bulut, Cicek Ugur, Gokyigit Birsen

机构信息

Department of Ophthalmology, Darica Farabi Training and Research Hospital, Kocaeli, Turkey.

Department of Ophthalmology, University of Healty Sciences, Prof. Dr. N. Resat Belger Beyoglu Eye Training and Research Hospital, Istanbul, Turkey.

出版信息

Beyoglu Eye J. 2019 Feb 20;4(1):28-31. doi: 10.14744/bej.2019.36854. eCollection 2019.

DOI:10.14744/bej.2019.36854
PMID:35187428
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8842036/
Abstract

OBJECTIVES

Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure in adduction, and may include globe retraction, upshoot or downshoot. Several systemic abnormalities, syndromes, and additional ocular findings can accompany DRS. This study is an evaluation of eye findings in patients with DRS.

METHODS

The records of 632 patients with DRS who were followed up between 1995 and 2016 were reviewed retrospectively. Patients with a follow-up of less than 6 months and patients with a history of eye/cranial trauma or injury were not included in the study. Before the patients were examined, a detailed anamnesis was obtained. Details of the medical records, including additional systemic diseases, were recorded.

RESULTS

The average of follow-up time was 45 months (min-max: 6-128 months). There were 255 male and 377 female patients. A total of 34 patients (5.4%) had additional ocular abnormalities. The most frequently observed ocular pathologies associated with DRS were congenital ptosis (n=6, 0.94%) and coloboma of the iris (n=4, 0.63%).

CONCLUSION

Most cases of DRS are observed as isolated. However, various ocular and systemic abnormalities and syndromes are associated with DRS. In particular, synkinetic syndromes may frequently be seen alongside DRS. Therefore, a complete ocular examination and anamnesis are crucial in cases with DRS.

摘要

目的

杜安眼球后退综合征(DRS)是一种先天性综合征,其特征为眼球内收和/或外展运动受限,内收时睑裂变窄,可能还包括眼球后退、上射或下射。DRS可能伴有多种全身异常、综合征及其他眼部表现。本研究旨在评估DRS患者的眼部表现。

方法

回顾性分析1995年至2016年期间随访的632例DRS患者的病历。随访时间不足6个月的患者以及有眼/颅脑外伤史的患者未纳入本研究。在对患者进行检查前,详细询问了病史。记录了病历细节,包括其他全身性疾病。

结果

平均随访时间为45个月(最短 - 最长:6 - 128个月)。男性患者255例,女性患者377例。共有34例患者(5.4%)伴有其他眼部异常。与DRS相关的最常见眼部病变为先天性上睑下垂(n = 6,0.94%)和虹膜缺损(n = 4,0.63%)。

结论

大多数DRS病例为孤立性。然而,DRS与多种眼部和全身异常及综合征相关。特别是,联合运动综合征可能常与DRS同时出现。因此,对于DRS患者,全面的眼部检查和病史询问至关重要。

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本文引用的文献

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Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve.涉及展神经的先天性颅神经支配障碍影像学表现的临床相关性
Indian J Ophthalmol. 2017 Feb;65(2):155-159. doi: 10.4103/ijo.IJO_1013_15.
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Congenital cranial dysinnervation disorders.先天性颅神经支配障碍性疾病
Int Ophthalmol. 2017 Dec;37(6):1369-1381. doi: 10.1007/s10792-016-0388-z. Epub 2016 Nov 11.
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Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.隐性COL25A1突变导致孤立性先天性上睑下垂或伴有协同性散开的外斜视型杜安综合征。
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Bilateral type-I duane syndrome with multiple anamolies: a case report.双侧Ⅰ型杜安综合征伴多种异常:一例报告
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Bilateral Marcus Gunn jaw winking synkinesis with monocular elevation deficiency: a case report and literature review.伴有单眼上睑下垂的双侧马库斯·冈恩下颌瞬目综合征:一例报告及文献综述
Int Ophthalmol. 2012 Apr;32(2):199-201. doi: 10.1007/s10792-012-9538-0. Epub 2012 Feb 19.
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Duane retraction syndrome type I, Marcus Gunn jaw-winking and crocodile tears in the same eye.Ⅰ型杜安眼球后退综合征、Marcus Gunn 下颌瞬目现象与同一只眼的鳄鱼泪。
J Pediatr Ophthalmol Strabismus. 2010 Dec 22;47 Online:e1-3. doi: 10.3928/01913913-20101217-04.
7
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma.杜安眼球后退综合征、眼球震颤、视网膜色素上皮病变以及伴有微小脑回和巨脑回的视网膜前膜、发育迟缓、听力丧失和颅咽管瘤。
Ophthalmic Genet. 2009 Mar;30(1):7-12. doi: 10.1080/13816810802415249.
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[Bilateral Duane syndrome associated with crocodile tears, and congenital megacolon: a case study].[双侧杜安综合征伴鳄鱼泪及先天性巨结肠:病例报告]
J Fr Ophtalmol. 2008 Mar;31(3):e6. doi: 10.1016/s0181-5512(08)74811-3.
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Duane's retraction syndrome: literature review.杜安眼球后退综合征:文献综述
Optometry. 2000 Nov;71(11):722-6.
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Duane's syndrome.杜安综合征
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